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At least 469 records · Page 26Linked to original sources
PubMed1998

Ultraviolet-B induced hyperplasia and squamous cell carcinomas in the cornea of XPA-deficient mice.

In Xeroderma Pigmentosum (XP) patients, due to a defective repair of UV-induced DNA damage, neoplastic changes occur in sunlight-exposed areas of the skin and eyes. There are seven complementation groups in XP (XP-A to XP-G). Recently, we have generated XPA-deficient mice (group-A XP) by gene targeting in embryonic stem cells. In order to evaluate UV-B sensitivity, XPA-deficient mice (n = 20), wild type (n = 7) and heterozygous mice (n = 13) were exposed to low daily doses of UV-B for 14 weeks at a cumulative dose of 22 kj m-2 (250-400 nm). For a period of 32 weeks, the mice were checked twice a week for the development of pathology. The UV-B treatment induced eye abnormalities in the XPA-deficient mice. Initially, photophobia was noticed, followed by a loss of transparency of the cornea, eventually affecting nearly all XPA-deficient mice (19 out of 20). In 12 out of 19 mice, the pathology progressed to give eye protrusion. Histology of these eyes showed hyperplasia and squamous cell carcinomas of the corneal epithelium. No eye-lesions were found in control (wild-type and heterozygous) mice that were exposed to the same UV-B dose. The corneal abnormalities found in the XPA-deficient mice appear to be similar to those found in human XP patients. These results confirm the role of the functional XPA gene in protecting the cornea from pathology by UV-B irradiation. In addition, they suggest that the XPA-deficient mouse is a suitable animal model for the study of XPA ocular disorders.

Animals↗
PubMedDate not supplied

Agenesis of bilateral internal carotid arteries and posterior fossa abnormality in a patient with facial capillary hemangioma: presumed incomplete phenotypic expression of PHACE syndrome.

PHACE syndrome is a neurocutaneous syndrome with the following features: posterior fossa malformations of the brain, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities. We report a rare case of bilateral internal carotid artery agenesis with transcranial collaterals from the external carotid arteries and agenesis of the vertebrobasilar system in a possible PHACE syndrome. We suggest that the patient had an incomplete phenotypic expression of the PHACE syndrome. Although the phenotypic spectrum is broad and is still largely unexplored, the extent of the cephalic neural crest cells insulted genetically or by other causes at a certain time during the development of the embryo might explain the variable phenotypic expression of PHACE syndrome.

Abnormalities, Multiple↗
PubMed1993

Ophthalmic assessment of physically disabled children attending a rehabilitation centre.

A retrospective analysis was conducted of 397 children, ranging in age from 2 to 19 years, attending the Regency Park Centre for Young Disabled in Adelaide. The disorders represented included cerebral palsy, head injury, spina bifida, severe speech and/or language disorders, muscular dystrophy and a number of less common conditions. The incidence of significant ophthalmic abnormalities in this population was 51%, with the highest incidence being 69 and 62% among children with head injury and cerebral palsy, respectively. Children with severe speech and language disorders had an incidence of 24%. Overall, routine examinations revealed previously unsuspected significant eye abnormalities in 31% of the children. A complete ophthalmic examination should be part of the evaluation of all physically disabled children to ensure early identification and treatment of abnormalities, and to optimize rehabilitation.

Adolescent↗
PubMed2003

Pathophysiology of Sturge-Weber syndrome.

Sturge-Weber syndrome is a neurocutaneous disorder classically presenting with a facial port-wine stain, vascular eye abnormalities, and an ipsilateral occipital leptomeningeal angioma. Children with Sturge-Weber syndrome often develop progressive neurologic problems. Data on the pathophysiology of Sturge-Weber syndrome are briefly reviewed. The embryologic, genetic, and pathologic considerations are discussed, as are theories regarding the mechanisms of the degenerative brain changes. Sturge-Weber syndrome likely results from an early embryologic malformation of vascular development affecting the development of the nearby skin, eye, and brain structures. Studies suggest that complex molecular interactions contribute to the abnormal development and function of blood vessels in Sturge-Weber syndrome. Neurologic deterioration in Sturge-Weber syndrome is likely secondary to impaired blood flow to the brain and is worsened by the presence of seizures. Insights from related areas are discussed, and future research studies are suggested.

Blood Vessels↗
PubMed1984

Ocular volume measured by CT scans.

Newer CT scans have greatly enhanced oculometric research and made it possible to measure ocular dimensions. With these measurements, ocular volume can be more accurately estimated to understand its relationship with age and sex. One hundred CT orbit scans with presumed normal eyes were used for the data base. The mean values and normal variations of ocular volumes at various ages in both sexes are presented. Rapid growth of the eyeball was noted during the first 24 months of age. It reached its peak between the ages of 18 and 30 years of age, after which there was a reduction. Results may be of help in recognizing eye abnormalities such as microophthalmus and macrophthalmia.

Adolescent↗
PubMed1994

Analysis of an older adult vision screening project.

BACKGROUND: The purpose of this study was to determine how a variety of reasonable vision screening criteria affected the results of vision screening previously performed on a community-dwelling older adult population. METHODS: The records of 201 previously performed vision screening evaluations of adults over the age of 65 were reanalyzed to determine failure rates using new theoretical criteria. Those criteria included screening by history alone, visual acuity alone, history in combination with visual acuity and a multiple test format with both 20/40 and 20/60 acuity criteria. RESULTS: Theoretical screening that would have taken place using visual acuity of less than 20/60 failed the fewest individuals; however, even using this minimal criteria 46 percent of those screened would have failed. Using a multiple test format the failure rate rises to almost 90 percent. The combination of historical criteria and visual acuity failed almost an identical population as would be failed by using an elaborate multiple test format. CONCLUSIONS: The prevalence of ocular abnormalities in this older adult populations was so high that vision screening done with even minimal criteria can be expected to fail very high numbers. Similar failure rates and composition can be achieved by using historical criteria in combination with visual acuity as are achieved using a more elaborate multiple-test format. Given the high prevalence of eye abnormalities in the older adult population the public health value of screening for the need for eye examination is questionable.

Aged↗
PubMed1992

Eye movement tics.

An 8-year-old girl presented with opsoclonus-like eye movement and an 18 month history of intermittent facial tics. Investigations were all normal. Electro-oculography showed the eye movements to be of variable amplitude (10-40 degrees), with no intersaccadic interval, and with a frequency of 3-4 Hz. Saccades, smooth pursuit, optokinetic, and vestibular reflexes were all normal. These abnormal eye movements eventually disappeared. It is thought that they were a form of ocular tics.

Child↗
PubMed1999

Joubert's syndrome and prenatal hydrocephalus.

Joubert's syndrome is an autosomal-recessive condition characterized by dysgenesis of the cerebellar vermis, hypotonia, developmental delay, a respiratory pattern of alternating tachypnea and apnea, and abnormal eye movements. Radiologic findings include a midline cerebellar cleft in place of the vermis and a characteristic shape of the fourth ventricle. Prenatal hydrocephalus has been proposed as a possible etiology for the cerebellar abnormalities but has not previously been described in association with this syndrome. The authors report a patient with clinical and radiographic features consistent with Joubert's syndrome who presented with congenital hydrocephalus.

Abnormalities, Multiple↗
PubMed1981

Skin and eye diseases among arc welders those exposed to welding operations.

The prevalence of skin and eye abnormalities was determined in 77 journeymen welders, 75 members of other trades exposed to welding operations and 58 non-exposed comparison workers. Characteristics including possible risk factors for skin cancer were compared among the groups. Localized cutaneous erythema was frequent in welders and occasional in other exposed workers. Small cutaneous scars were frequent in welders. There was no significant difference in the prevalence of actinic elastosis by occupational group; however, the degree of elastosis was significantly associated with type of complexion, original hair color, eye color, childhood freckling poor ability to tan and ease of sunburning. There were no significant difference among the groups in the prevalence of various dermatoses, skin tumors, alterations in visual acuity or clinical ocular abnormalities on slit lamp biomicroscopy and fundoscopy apart from variations in the amount of dust in the lids. The observed prevalences of skin and eye diseases may provide useful comparative data.

Adult↗
PubMed2000

Modulation of constant light effects on the eye by ciliary ganglionectomy and optic nerve section.

Our previous studies have shown that an environment of constant light (CL) can lead to development of high degree of hyperopia in newborn chicks by inducing severe corneal flattening, and compensatory growth of the vitreous chamber. We wish to know whether the abnormal eye growth and progressive hyperopia under CL conditions is accomplished by a mechanism that uses the visual processing pathways of the central nervous system (CNS) or by a mechanism located in the eye. Thirty white leghorn chicks (Cornell K-strain) were raised under 12 h light/12 h dark (12L/12D) for either optic nerve section (ONS) or ciliary ganglion section (CGS). Another 30 chicks were raised under CL for ONS or CGS. Refractive states and corneal curvatures were measured by infrared (IR) photoretinoscopy and IR keratometry, respectively. The axial lengths of the ocular components were measured by A-scan ultrasonography. Both ONS and CGS surgery produced dilated pupils and accommodative paralysis. Four weeks after surgery, CGS eyes exhibited a hyperopic defocus, flatter cornea, and shorter vitreous chamber depth under both CL and normal conditions, whereas ONS eyes showed a smaller radius of corneal curvature and shallow vitreous chamber only in the normal light cycle group. CGS eyes of CL chicks showed significantly deeper vitreous chambers than did fellow control eyes. Our results indicate that optic nerve section does not seem to influence CL effects. Thus, local mechanisms may play a major role in the ocular development of chicks. The ciliary nerve is necessary for the normal corneal and anterior chamber growth, and prevents CL effects. The progressively increasing vitreous chamber depth under CL may be influenced by both local and central mechanisms.

Animals↗
PubMed1981

Late (4-8 years) outcome of treatment with megadoses of fluphenazine enanthate in drug-refractory schizophrenics.

Fourteen schizophrenics who did not respond to standard doses of neuroleptics have been treated with megadoses of fluphenazine enanthate during a period of 4-8 years. Repeated attempts have been made to reduce the dose to the standard dosage. Some of the patients have gradually been transferred to maintenance treatment with standard doses, with megadoses given only during psychotic relapse. The megadose treatment has led to substantial reduction in social disablement, enabling the patients, for instance, to leave the hospital or live in an open ward. These patients have been evaluated with rating scales for psychopathology and side effects, and subjected to EEG, ECG, chest X-ray, and examinations for skin and eye changes and local infiltrations. Laboratory tests, including anti-DNA examination, have also been performed. These patients, treated with high total doses of different oral neuroleptics and fluphenazine depot, showed some EEG and ECG abnormalities, eye changes, slight leucopenia, a low number of staff nuclei neutrophils and infiltrations at the injection site, but these reactions did not result in any practical handicaps. The rating scales showed dyskinetic movements, usually slight, in six out of the 14 patients studied.

Adult↗
PubMed2003

Cell contact-dependent positioning of the D cleavage plane restricts eye development in the Ilyanassa embryo.

In embryos of the gastropod Ilyanassa obsoleta, the first-quartet micromeres of the A, B and C lineages (1a, 1b, and 1c) are each competent to form an eye in response to signaling from the 3D cell. The first-quartet micromere of the dorsal D lineage (1d) is smaller than the others, divides at a slower rate, and lacks the ability to form an eye. These properties of 1d all depend on inheritance of vegetal polar lobe cytoplasm by its mother cell D at second cleavage. I show that they depend also on the presence of cells adjacent to D during the late four-cell stage: after ablation of the A and/or C cells before this stage, 1d inherits more cytoplasm than normal, divides more rapidly, and frequently forms an eye. In non-D lineages, cleavage plane positioning and micromere division rates are relatively insensitive to cell contacts. Compressing whole embryos during third cleavage also leads to an increase in 1d volume correlated with abnormal eye formation; this suggests that the normal effect of cell contacts is to position the D cell cleavage furrow closer to the animal pole, and the enhanced division asymmetry of the D cell contributes to the suppression of eye development.

Animals↗
PubMed1999

Joubert's syndrome: new cases and review of clinicopathologic correlation.

The authors report on seven patients, six males and one female, with Joubert's syndrome who underwent developmental evaluation, neurologic and ophthalmologic examinations, and magnetic resonance imaging of the brain. All patients had severe developmental delay, hypotonia, impairment of smooth visual pursuit, and saccadic eye movements. Six had jerky eye movements and ptosis was observed in two patients and retinal dystrophy in one. The posterior lobe of the vermis was absent in all patients and the small rudimentary anterior lobe lacked fusion in the midline, with cleft formation in five patients. Malformation of the pontomesencephalic junction, with prominent superior cerebellar peduncles and deep interpeduncular fossa, was observed in all patients. Abnormal cerebellar-brainstem and cerebellocortical connections because of the lack of the posterior vermis and dysplasia of the deep cerebellar nuclei might be responsible for the abnormal eye movements and retarded development in Joubert's syndrome. Correlation between radiologic findings and clinical symptoms and the possible role of abnormal patterning of the midbrain-hindbrain by homeotic genes during embryonic development are reviewed.

Abnormalities, Multiple↗
PubMed1985

Amblyopic processing of positional information. Part I: Vernier acuity.

Psychometric functions for the recognition of vernier displacements have been measured in 6 strabismic amblyopes, 1 anisometropic amblyope, and 1 bilateral amblyope of unknown aetiology. In the non-amblyopic eyes of the 7 unilateral amblyopes the mean threshold vernier offset was about half of that of a group of 7 experienced normal observers. No correlation was found between vernier acuities and Snellen acuities in the abnormal eyes of squinters. These eyes also displayed massive distortions of horizontal spatial values causing perceptual distortions. In all but one of the amblyopic eyes tested hyperacuity virtually disappeared at the brief exposure duration of 50 ms. None of the observed effects could be predicted from the amblyopic contrast sensitivities, grating resolutions, or letter acuities. This suggests that the loss of positional information is an independent and most significant feature of amblyopic visual dysfunction.

Amblyopia↗
PubMed2002

Neuropsychological and quantitative oculometric study of a case of sporadic Creutzfeldt-Jakob disease at predementia stage.

A quantitative assessment of eye movements and a detailed neuropsychological profile were conducted at predementia stage in a patient who later had histological confirmation of sporadic Creutzfeldt-Jakob disease (CJD). The patient was a middle aged man who presented with abnormal eye movements and poor balance. Neuropsychological deficits suggested orbito-mesial dysfunction, resembling progressive supranuclear palsy. Oculometry showed accurate but dramatically slowed saccades, with normal pursuit movements. Neuropsychology and quantitative oculometry may be of value in the differential diagnosis and earlier detection of dementia-akinetic-rigid syndromes; in particular, because of the highly stereotyped nature of saccades, routine quantitative oculometry can reveal significant impairment at a very early stage in some cases and could thus facilitate earlier diagnosis.

Cognition↗
PubMed2006

Retinoids control anterior and dorsal properties in the developing forebrain.

We have previously shown that retinoic acid (RA) synthesized by the retinaldehyde dehydrogenase 2 (RALDH2) is required in forebrain development. Deficiency in RA due to inactivation of the mouse Raldh2 gene or to complete absence of retinoids in vitamin-A-deficient (VAD) quails, leads to abnormal morphogenesis of various forebrain derivatives. In this study we show that double Raldh2/Raldh3 mouse mutants have a more severe phenotype in the craniofacial region than single null mutants. In particular, the nasal processes are truncated and the eye abnormalities are exacerbated. It has been previously shown that retinoids act mainly on cell proliferation and survival in the ventral forebrain by regulating SHH and FGF8 signaling. Using the VAD quail model, which survives longer than the Raldh-deficient mouse embryos, we found that retinoids act in maintaining the correct position of anterior and dorsal boundaries in the forebrain by modulating FGF8 anteriorly and WNT signaling dorsally. Furthermore, BMP4 and FGF8 signaling are affected in the nasal region and BMP4 is ventrally expanded in the optic vesicle. At the optic cup stage, Pax6, Tbx5 and Bmp4 are ectopically expressed in the presumptive retinal pigmented epithelium (RPE), while Otx2 and Mitf are not induced, leading to a dorsal transdifferentiation of RPE to neural retina. Therefore, besides being required for survival of ventral structures, retinoids are involved in restricting anterior identity in the telencephalon and dorsal identity in the diencephalon and the retina.

Aldehyde Oxidoreductases↗
PubMed1977

Electro-rentinal abnormalities in heterozygotes of renal-retinal dysplasia.

The relatives of two patients with medullary cystic disease associated with retinitis pigmentosa were studied. A new case was found in one of these families, and consanguinity of the parents was established in another. Conventional fundoscopic examination of relatives without renal disease did not show retinal abnormalities, but electro-ophthalmologic investigation demonstrated retinal dysfunction in three relatives, including two of the four parents who may be considered obligatory heterozygotes under the assumption of autosomal recessive inheritance of this syndrome. Less severe electro-ophthalmological abnormalities were observed in the other two parents. It is considered highly probable that all three patients are homozygous for a mutant gene causing both the renal and the retinal abnormalities. The results of this study support the view that medullary cystic disease associated with retinitis pigmentosa is transmitted as an autosomal recessive trait, in contrast to the dominant form, which is reported not to be associated with eye abnormalities. With respect to genetic couseling and donation of kidneys by relatives, it is important to establish the mode of inheritance of cystic medullary disease in a given family. Electro-ophthalmologic examination should therefore be included in the examination of families in which medullary cystic disease occurs.

Adolescent↗